leukocyte adhesion deficiency 3

Summary
Synonym
  • IADD
  • LAD1 variant
  • LAD1V
  • LAD3
  • integrin activation deficiency disease
  • leukocyte adhesion deficiency 1 variant
  • leukocyte adhesion deficiency type III
Definition
A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.
Super Class
leukocyte adhesion deficiency
Disease Ontology
DOID:0110912
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10235 RASGRP2 RAS guanyl releasing protein 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024